Dineke Westra

1 INTRODUCTION Congenital diaphragmatic hernia (CDH) is a life-threatening condition that is generally diagnosed by fetal ultrasound in the second trimester.1 Survival rates have improved over the years and are influenced by several factors, such as gestational age (GA) at birth, side of the defect (left-sided or right-sided), severity of pulmonary hypoplasia, associated structural anomalies (isolated or complex) and/or genetic abnormalities.2, 3 More than 100 syndromes are reportedly...

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1. Introduction Newborn screening (NBS) aims to identify disorders early to prevent or significantly reduce morbidity and mortality. To guide the selection of disorders that could qualify for population-based screening, 10 criteria were established by Wilson and Junger (W&J) in 1968 [1].